March 08, 2008

ISABS 2007 abstracts

Y-CHROMOSOME DIVERSITY IN SOUTHERN URALS: A GEOGRAPHIC BORDER BETWEEN EUROPE AND ASIA

Khusnutdinova E. et al.

Turkic-speaking Bashkirs are dispersed throughout the southern Ural region. They are considered by historians as descendants of Turkic- speaking nomadic communities that arrived in southern Urals at Early Medieval ages and assimilated indigenous population. We performed phylogenetic analysis of Y-chromosome lineages in a sample of 587 Bashkirs drawn from different parts of the southern Ural region and neighbouring areas: Abzelilovskiy (N=152), Sterlibashevskiy (N=54), Baimakskiy (N=95), and Burzyanskiy (N=82) districts of Bashkortostan republic, Orenburg (N=79), Perm (N=72), Samara and Saratov (N=51) Oblasts of Russia. Obtained samples of Y-chromosomes were analyzed using 24 biallelic markers of the Y chromosome non-recombining region. A total of 17 haplogroupswere identified among which R1b3-M269, R1a1- SRY 1532, and N3-M46 lineageswere predominant. Since N3-M46 lineage is prevalent among neighbouring Finno- Ugric populations and is rarely found in Central Asia, where numerous Turkicspeaking confederations dominated over a long period ancestors of Finno-Ugric groups are probable source population that contributed N3 lineage into Bashkirs. Y- Chromosome lineages specific to Central and East Asian populations (C3c- M48, O-M175) were absent or found with very low overall frequency (less than 10%). The only exception is R1b2 lineage which was found with very high frequency among Transural Bashkirs. Overall prevalence of typical West Eurasian(R1a-SRY 1532 and R1b3- M269) and North Eurasian (N3) lineages imply thatTurkic-speaking newcomers were either admixed or genetic input associated withtheir arrival was limited.

INTRA-ETHNIC VARIATION OF THE Y CHROMOSOME IN EUROPEAN COUNTRIES: A COMPARATIVE STUDY

Balanovsky O et al.

To reveal degree of the regional Y chromosomal variation in Europe we compared our data on Russians (14 regional populations), Ukrainians (4 populations) and Belorussians (2 populations, and 2 populations from Behar et al., 2003) with the published regional data on other European countries. For reliable calculations neighbour populations were pooled to reach sample sizes above 70. To measure the intra-ethnic variation we calculated (i) the average genetic distance between regional populations of every group and (ii) Gst (Fst) variation. Gst value was considered as preferable measure, as it was found to be less sensitive to level of phylogenetic resolution in the data. Croatians, Finns, Russians and Italianswere proved to be the most diverse (genetically subdivided) groups; Swedes andGermans demonstrated moderate variation; Greeks, Turks, Poles, Belorussiansand Ukrainians were more genetically homogenous, showing lower geographicvariation of the paternal lineages inside their countries. However, even lower variation of the Y chromosome is significantly higher as compared with analogous values calculated from mitochondrial DNA and autosomal data. This finding stresses that forensic studies may demand not only country-specific, but provincespecific databases (at least for listed above highly genetically subdivided countries), since haplogroup profiles differ significantly from one province to another, inside the same country. Despite the high intra-ethnic variation (Gst=0.03on average), the inter-ethnic differences were five times higher (Gst=0.15),revealing dominance of inter-ethnic variation in structuring the paternal gene pool in Europe.

PHYLOGEOGRAPHY OF Y-CHROMOSOMAL LINEAGES IN NORTH EURASIA

Stepanov V et al.

Aim of the study was to reconstruct the evolution of paternal lineages in populations of Siberia, Central Asia and Eastern Europe. Forty population samples from 22 ethnic groups were studied. Totally 1600 Y chromosomes were genotyped for 40 biallelic markers according to Y chromosome consortium (YCC) classification. The microsatellite haplotypes within HG were constructed using 7 STR loci. Thirty one haplogroups were observed, but frequencies of only 7 of them(N3a, R1a1, Q*, C3xC3c, N2, C3c, O3) were higher than 3 percent. In sum these7 haplogroups comprise 86% of Y-chromosomal gene pool in North Eurasia. The proportion of inter- population differences in the total genetic variability of region's population according to the analysis of molecular variance is 19%. Analysis ofgenetic relationships between populations reveals three main clusters ofpopulations in space of two first PCs reflecting the differential presence of ancientWest-Eurasian Caucasoid, Proto-Uralic and Paleoasiatic components. Based on analysis of microsatellite haplotypes within main Y- chromosomal haplogroups, molecular diversity within monophyletic lineages were calculated and phylogenetic trees for most common haplogroups were reconstructed. Western-Eurasianlineages (R1a1, R1b) are characterized by the maximal diversity in EasternEuropean populations. Eastern-Eurasian lineages have the high level of diversityin populations of Eastern Siberia and North-East Asia. The age of genetic diversity generation and time of population differentiation (Td) shows that most lineages which are common in North Eurasian populations dated back to Upper Paleolithic period before the last glacial maximum.

THE MITOCHONDRIAL DNA POLYMORPHISM IN UKRAINIAN POPULATION

Grechanina EY et al.

Study of mtDNA polymorphism for estimation genetic diversity of Ukrainian population. There are 239 samples of Ukrainians from different regions of Ukraine. There are sequention of hypervariable segment HVS I in combination with RFLPanalysis of coding sites of mtDNA and phylogeographical analysis. This research was in Estonian Biocenter. Length of sequencing fragment was 377 bp 102 positions from 377 were polymorphic. From these 91 nucleotide substitutions are transitions, with prevalence pyrimidine under purine (69:22). Transversions were in 11 sites. Were determined 157 haplotypes. The most common haplotype (10.0%) corresponds to CRS. Indexes of genetic diversity for Ukrainian population are H=0.986 and Di=5.19. Screening of polymorphic sites established followinghaplogroups of mtDNA, which have all-European spreading: H-33.5%, V-5.4%,HV-3.7%, J- 11.7%, T-6.7%, U-20.9% (U2, U3, U4, U5, U7, U8), K-2.9%, I-2.1%,W- 2.1%, X-2.5%. Subhaplogroup U3 (2.5%) may testify the presence Iraniancomponent. Subhaplogroup U4 was detected with frequency 3.7%.Subhaplogroup U5 has maximal frequency in Scandinavian people also wasdetected in Ukrainian population with high frequency 10.8%. Haplogroup V, asmarker of Finnish-Hungarian people, has high frequency in Ukrainian population. There were found Asian lines (A, B, C, D, Z) with frequency 2.0%. Data indicate on complicated ethnical formation of modern Ukrainian population, where assimilation processes and inter-ethnic interactions played considerable role. They will be important additions in context about polymorphism of European populations mtDNA.

A GLIMPSE AT THE FRENCH mtDNA GENETIC POOL

Pennarun E et al.

In the coverage of the genetic pool of Europe, some major cavities were left, hence to fill one of them, namely the French mtDNA pool we collected 868 samples from twelve different locations of France. Those samples were sequenced for the hypervariable segment I (HVS-I) and then typed for SNPs in the coding region, either by RFLP or 5' nuclease allelic discrimination, in order to assign them to the right haplogroup. Then the mtDNA gene pools of French Basques and Bretons were compared in terms of frequency and composition with relevant neighbouring populations. The French Basques’ mtDNA pool sharessome common cardinal features with that of the Spanish Basques, represented inthe high prevalence of haplogroup H. However, the French Basques do show anumber of distinct features, most notably expressed in the much higher frequencyof haplogroups linked with the Neolithic diffusion in Europe. In Brittany, Finistère shows closer affinities with Britain and Scandinavia than the two otherdepartments of Brittany. The mtDNA haplogroup composition of the French does not differ significantly from the surrounding European genetic landscape. In a finer grain, microgeographical differentiation can be revealed as shown for the French Basque country and for Brittany.

CULTURAL AND GENETIC DIVERSITY IN CENTRAL ANATOLIA: A LOCAL PERSPECTIVE

Gokcumen O et al.

Anatolia has been an important crossroads for numerous populations since the Neolithic. Among these, the Hattis, Urartians, Lydians, Phyrigians and Ottomans emerged in Anatolia proper. In addition, although non-Anatolian in origin, the Hittites, Greeks, Romans and Byzantines influenced and were influenced by local Anatolian cultures. These dynamics, as well as more recent events, such as the Turco-Ottoman War of late 19th century, the reconfiguration of the populations of the Ottoman Empire and the Greek- Turkish population exchange of 1920s, have made Anatolia a culturally and genetically complex region. Despite this complexhistory, Anatolia has been often been viewed as a uniform cultural landscape.Working from this perspective, previous studies of genetic variation in Anatoliaanalyzed samples from Turkish populations obtained from mostly urban hospitals or universities. Such studies not only overlooked the regional variation within Anatolia, but also treated contemporary Turkish populations as the directrepresentatives of Medieval and Neolithic Anatolian populations. To address these problems, we collected ~125 samples and extensive ethnographic data from a location in Central Anatolia southeast of Ankara. The samples were analyzed for mtDNA and NRY diversity, and the resulting data compared with those from previous genetic analyses of Turkish populations. We observed that several ethnic and cultural groups having different population histories co-existed in this location. This pattern likely represents the typical picture of Anatolian variation. We are using our genetic data to help us clarify these distinct population histories in greater detail.

4 comments:

This turkish lad Gokcumen DOES N'T have a clue about archeology and history, does he?Phrygians and Urartians developed in Anatolia proper, while Hittites were....non Anatolian???Is this the educational level of turkish universities?Phrygians were a paleo-Balkan people, descendant of the Balkan-Danubian complex of I.E. peoples. Their language clearly shows that!!!There are also archaeological features like pottery, burial customs, toponyms, rivernames, etc. that correlate Phrygians with the Balkan peninsula.Phrygians' closer linguistic relatives are the Greeks and the Armenians.As for the Urartians, these were descended by the Hurrians. They are both members of the Alarodian Caucasian linguistic group and their closer modern relatives are the Northwestern Caucasian group peoples. So much for Anatolia proper!!!Finally why Hittites were non Anatolian?They emerged politically, economically and lingually in Anatolia. The same as Lydians, Luwians, Palaians, Carians, Loukka, etc. did!Of course their far origin are the I.E. migrations from the Yamnaya culture but the Anatolian I.E. language is just the mother tongue of the Hittite one. The latter emerged in Anatolia and not before. Thus if you want to look at the spring of the Hittite language you can call it non Anatolian BUT SO YOU MUST DO FOR THE LYDIAN AND THE CARIAN, ETC. TOO!!!If you look at their current, or latter if you prefer, state you must call Hittite an Anatolian language as Carian, Lydian, Mysian, etc.!!!

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